[一名患有赫尔斯莫特尔 - 范德阿综合征儿童的ADNP基因变异分析]
[Analysis of ADNP gene variant in a child with Helsmoortel-van der Aa syndrome].
作者信息
Ma Jian, Ma Haixia, Zhang Kaihui, Lyu Yuqiang, Gao Min, Wang Dong, Gai Zhongtao, Liu Yi
机构信息
Jinan Pediatric Research Institute, Children' s Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Apr 10;39(4):428-432. doi: 10.3760/cma.j.cn511374-20201113-00797.
OBJECTIVE
To explore the genetic basis for a child manifesting with intellectual disability, language delay and autism spectrum disorder.
METHODS
Genomic DNA was extracted from peripheral blood samples of the child and his family members, and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing and interpreted according to the guidelines of the American College of Medical Genetics and Genomics.
RESULTS
The child was found to harbor a heterozygous c.568C>T (p.Q190X) nonsense variant of the ADNP gene, which was not detected in either parent by Sanger sequencing.
CONCLUSION
The clinical and genetic testing both suggested that the child has Helsmoortel-van der Aa syndrome due to ADNP gene mutation, which is extremely rare in China.
目的
探究一名表现为智力残疾、语言发育迟缓及自闭症谱系障碍的儿童的遗传基础。
方法
从该儿童及其家庭成员的外周血样本中提取基因组DNA，并进行全外显子组测序。候选变异通过桑格测序进行验证，并根据美国医学遗传学与基因组学学会的指南进行解读。
结果
发现该儿童携带ADNP基因的杂合c.568C>T（p.Q190X）无义变异，桑格测序在其父母中均未检测到该变异。
结论
临床及基因检测均提示该儿童因ADNP基因突变患有赫尔斯莫尔特 - 范德阿综合征，此病症在中国极为罕见。
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